Thalassemia

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Thalassemia is a blood disorder that is caused by DNA mutations in cells that are responsible for producing haemoglobin. This leads to a reduction in the number and ability of the red blood cells to carry oxygen throughout the body and can cause sufferers to feel symptoms such as fatigue.

Thalassemia can be of two types. Alpha-thalassemia arises due to insufficient synthesis of alpha-haemoglobin chains and an excess of beta chains. Beta-thalassemia occurs due to insufficient synthesis of beta-haemoglobin chains and an excess of alpha chains.

Regular blood transfusions are the only treatment available to patients with thalassemia. It allows thalassemia patients to live relatively normal lives, however, a cure remains to be found for this disease. The genetic cause of thalassemia was one of the first genes discovered in the 1970s, yet 30 years later, gene therapy still eludes thalassemia patients.